MCID: MNT300
MIFTS: 19

Mental Retardation, X-Linked, with Panhypopituitarism

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, with Panhypopituitarism

MalaCards integrated aliases for Mental Retardation, X-Linked, with Panhypopituitarism:

Name: Mental Retardation, X-Linked, with Panhypopituitarism 57
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 57 75 29 13 6 40 73
Mental Retardation with Panhypopituitarism, X-Linked 29 6
Mrgh 59 75
X-Linked Intellectual Disability with Isolated Growth Hormone Deficiency 59
Mental Retardation X-Linked with Panhypopituitarism 75
Mrxgh 75

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability with isolated growth hormone deficiency
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
mental retardation, x-linked, with panhypopituitarism:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300123
Orphanet 59 ORPHA67045
UMLS via Orphanet 74 C1848068
ICD10 via Orphanet 34 E23.0
MeSH 44 D038901
UMLS 73 C1848068

Summaries for Mental Retardation, X-Linked, with Panhypopituitarism

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, with isolated growth hormone deficiency: A disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency.

MalaCards based summary : Mental Retardation, X-Linked, with Panhypopituitarism, is also known as mental retardation, x-linked, with isolated growth hormone deficiency. An important gene associated with Mental Retardation, X-Linked, with Panhypopituitarism is SOX3 (SRY-Box 3). Related phenotypes are hypothyroidism and growth hormone deficiency

Description from OMIM: 300123

Related Diseases for Mental Retardation, X-Linked, with Panhypopituitarism

Symptoms & Phenotypes for Mental Retardation, X-Linked, with Panhypopituitarism

Clinical features from OMIM:

300123

Human phenotypes related to Mental Retardation, X-Linked, with Panhypopituitarism:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 growth hormone deficiency 32 HP:0000824
3 panhypopituitarism 32 HP:0000871
4 intellectual disability, mild 32 HP:0001256
5 global developmental delay 32 HP:0001263
6 short stature 32 HP:0004322

Drugs & Therapeutics for Mental Retardation, X-Linked, with Panhypopituitarism

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, with Panhypopituitarism

Genetic Tests for Mental Retardation, X-Linked, with Panhypopituitarism

Genetic tests related to Mental Retardation, X-Linked, with Panhypopituitarism:

# Genetic test Affiliating Genes
1 Mental Retardation with Panhypopituitarism, X-Linked 29 SOX3
2 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 29

Anatomical Context for Mental Retardation, X-Linked, with Panhypopituitarism

Publications for Mental Retardation, X-Linked, with Panhypopituitarism

Variations for Mental Retardation, X-Linked, with Panhypopituitarism

ClinVar genetic disease variations for Mental Retardation, X-Linked, with Panhypopituitarism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX3 SOX3, 33-BP DUP, NT711-743 duplication Pathogenic
2 SOX3 NM_005634.2(SOX3): c.449C> A (p.Ser150Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 140504612: 140504612
3 SOX3 NM_005634.2(SOX3): c.449C> A (p.Ser150Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 139586777: 139586777

Expression for Mental Retardation, X-Linked, with Panhypopituitarism

Search GEO for disease gene expression data for Mental Retardation, X-Linked, with Panhypopituitarism.

Pathways for Mental Retardation, X-Linked, with Panhypopituitarism

GO Terms for Mental Retardation, X-Linked, with Panhypopituitarism

Sources for Mental Retardation, X-Linked, with Panhypopituitarism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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